SF3B6

Summary

SF3B6 (splicing factor 3b subunit 6, HGNC:30096) is a protein-coding gene on chromosome 2p23.3, encoding Splicing factor 3B subunit 6 (Q9Y3B4). Component of the 17S U2 SnRNP complex of the spliceosome, a large ribonucleoprotein complex that removes introns from transcribed pre-mRNAs. It is a common-essential gene (DepMap: required in 99.5% of cancer cell lines).

This gene encodes a 14 kDa protein subunit of the splicing factor 3b complex. Splicing factor 3b associates with both the U2 and U11/U12 small nuclear ribonucleoprotein complexes (U2 snRNP) of spliceosomes. This 14 kDa protein interacts directly with subunit 1 of the splicing factor 3b complex. This 14 kDa protein also interacts directly with the adenosine that carries out the first transesterification step of splicing at the pre-mRNA branch site.

Source: NCBI Gene 51639 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 10 total
• Druggable target: yes
• Cancer dependency (DepMap): dependent in 99.5% of screened cell lines (common-essential)
• MANE Select transcript: NM_016047

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30096
Approved symbol	SF3B6
Name	splicing factor 3b subunit 6
Location	2p23.3
Locus type	gene with protein product
Status	Approved
Aliases	P14, SF3B14a, Ht006, CGI-110, SAP14a
Ensembl gene	ENSG00000115128
Ensembl biotype	protein_coding
OMIM	607835
Entrez	51639

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 7 protein_coding, 1 retained_intron

ENST00000233468, ENST00000478050, ENST00000882797, ENST00000924895, ENST00000924896, ENST00000924897, ENST00000924898, ENST00000924899

RefSeq mRNA: 1 — MANE Select: NM_016047 NM_016047

CCDS: CCDS1707

Canonical transcript exons

ENST00000233468 — 4 exons

Exon	Start	End
ENSE00000721450	24068321	24068459
ENSE00000721455	24074076	24074194
ENSE00000808827	24067586	24067851
ENSE00001034726	24076200	24076326

Expression profiles

Bgee: expression breadth ubiquitous, 255 present calls, max score 99.02.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 196.6817 / max 3019.0092, expressed in 1825 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
27304	180.4800	1825
27307	7.8018	1699
27302	3.5294	1267
27303	3.2707	1243
27305	0.6757	417
27301	0.5056	260
27306	0.4184	180

Top tissues by expression

256 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
upper arm skin	UBERON:0004263	99.02	gold quality
ileal mucosa	UBERON:0000331	98.84	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	98.66	gold quality
calcaneal tendon	UBERON:0003701	98.59	gold quality
mucosa of sigmoid colon	UBERON:0004993	98.56	gold quality
ganglionic eminence	UBERON:0004023	98.54	gold quality
cartilage tissue	UBERON:0002418	98.50	gold quality
lower esophagus mucosa	UBERON:0035834	98.45	gold quality
kidney epithelium	UBERON:0004819	98.36	gold quality
islet of Langerhans	UBERON:0000006	98.32	gold quality
colonic mucosa	UBERON:0000317	98.32	gold quality
rectum	UBERON:0001052	98.25	gold quality
tibialis anterior	UBERON:0001385	98.25	gold quality
smooth muscle tissue	UBERON:0001135	98.17	gold quality
ventricular zone	UBERON:0003053	98.15	gold quality
cortical plate	UBERON:0005343	98.07	gold quality
corpus epididymis	UBERON:0004359	98.01	gold quality
skin of hip	UBERON:0001554	98.00	gold quality
upper leg skin	UBERON:0004262	97.97	gold quality
nasal cavity mucosa	UBERON:0001826	97.92	gold quality
metanephros	UBERON:0000081	97.91	gold quality
endometrium	UBERON:0001295	97.91	gold quality
muscle layer of sigmoid colon	UBERON:0035805	97.89	gold quality
descending thoracic aorta	UBERON:0002345	97.88	gold quality
left ventricle myocardium	UBERON:0006566	97.86	gold quality
adult organism	UBERON:0007023	97.86	gold quality
esophagus mucosa	UBERON:0002469	97.82	gold quality
seminal vesicle	UBERON:0000998	97.81	gold quality
mucosa of transverse colon	UBERON:0004991	97.81	gold quality
bronchial epithelial cell	CL:0002328	97.79	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-8142	yes	122.89
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

16 targeting SF3B6, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-498-5P	99.76	69.64	1807
HSA-MIR-561-3P	99.64	70.90	3647
HSA-MIR-16-2-3P	99.29	70.60	1954
HSA-MIR-195-3P	99.29	70.61	1954
HSA-MIR-4477A	98.83	69.75	2952
HSA-MIR-6755-3P	98.61	66.90	834
HSA-MIR-10395-3P	98.10	66.70	1726
HSA-MIR-4540	96.90	67.46	473
HSA-MIR-3677-3P	93.96	67.89	56

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 99.5% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 5)

• determined the three-dimensional structure of the human SF3b complex by single-particle electron cryomicroscopy at a resolution of less than 10 angstroms, allowing identification of protein domains with known structural folds (PMID:12738865)
• determined the high resolution structure of a complex between SF3b14 and a peptide derived from SF3b155 and proposed a model for recognition of the pre-mRNA branch sequence adenosine. (PMID:16432215)
• the p14-RNA interaction screens charges on the backbone of the branch site during spliceosome assembly. (PMID:26784522)
• The long non-coding RNA DKFZp434J0226 regulates the alternative splicing process through phosphorylation of SF3B6 in PDAC. (PMID:34470609)
• SF3B14 is involved in the centrosome regulation through splicing of TUBGCP6 pre-mRNA. (PMID:34954520)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	sf3b6	ENSDARG00000009753
mus_musculus	Sf3b6	ENSMUSG00000037361
rattus_norvegicus	Sf3b6	ENSRNOG00000046172
drosophila_melanogaster	Sf3b6	FBGN0035692
caenorhabditis_elegans		WBGENE00016808

Protein

Protein identifiers

Splicing factor 3B subunit 6 — Q9Y3B4 (reviewed: Q9Y3B4)

Alternative names: Pre-mRNA branch site protein p14, SF3b 14 kDa subunit, Spliceosome-associated protein, 14-kDa, Splicing factor 3b, subunit 6, 14kDa

All UniProt accessions (1): Q9Y3B4

UniProt curated annotations — full annotation on UniProt →

Function. Component of the 17S U2 SnRNP complex of the spliceosome, a large ribonucleoprotein complex that removes introns from transcribed pre-mRNAs. The 17S U2 SnRNP complex (1) directly participates in early spliceosome assembly and (2) mediates recognition of the intron branch site during pre-mRNA splicing by promoting the selection of the pre-mRNA branch-site adenosine, the nucleophile for the first step of splicing. Within the 17S U2 SnRNP complex, SF3B6 is part of the SF3B subcomplex, which is required for ‘A’ complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence in pre-mRNA. Sequence independent binding of SF3A and SF3B subcomplexes upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA. Within the 17S U2 SnRNP complex, SF3B6 directly contacts the pre-mRNA branch site adenosine for the first catalytic step of splicing. SF3B6 stabilizes the intron branch site-U2 snRNA duplex, thereby promoting-binding of introns with poor sequence complementarity. Also acts as a component of the minor spliceosome, which is involved in the splicing of U12-type introns in pre-mRNAs.

Subunit / interactions. Component of the 17S U2 SnRNP complex, a ribonucleoprotein complex that contains small nuclear RNA (snRNA) U2 and a number of specific proteins. Part of the SF3B subcomplex of the 17S U2 SnRNP complex. SF3B associates with the splicing subcomplex SF3A and a 12S RNA unit to form the U2 small nuclear ribonucleoproteins complex (U2 snRNP). Within the SF3B complex interacts directly with SF3B1 (PubMed:16432215, PubMed:21062891, Ref.20). Component of the minor spliceosome, which splices U12-type introns.

Subcellular location. Nucleus.

Similarity. Belongs to the SF3B6 family.

RefSeq proteins (1): NP_057131* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000504	RRM_dom	Domain
IPR012677	Nucleotide-bd_a/b_plait_sf	Homologous_superfamily
IPR034150	SF3B6_RRM	Domain
IPR035979	RBD_domain_sf	Homologous_superfamily
IPR050374	RRT5_SRSF_SR	Family

Pfam: PF00076

UniProt features (18 total): strand 6, helix 4, turn 2, modified residue 2, chain 1, domain 1, region of interest 1, cross-link 1

Structure

Experimental structures (PDB)

39 structures, top 30 by resolution.

PDB	Method	Resolution (Å)
7Q4O	ELECTRON MICROSCOPY	2.1
3LQV	X-RAY DIFFRACTION	2.38
2F9D	X-RAY DIFFRACTION	2.5
8H6L	ELECTRON MICROSCOPY	2.6
8H6K	ELECTRON MICROSCOPY	2.7
7DVQ	ELECTRON MICROSCOPY	2.89
2F9J	X-RAY DIFFRACTION	3
8I0R	ELECTRON MICROSCOPY	3
8H6E	ELECTRON MICROSCOPY	3.2
8H6J	ELECTRON MICROSCOPY	3.25
9ZE2	ELECTRON MICROSCOPY	3.26
6FF4	ELECTRON MICROSCOPY	3.4
8I0P	ELECTRON MICROSCOPY	3.4
9ZE0	ELECTRON MICROSCOPY	3.43
9ZEC	ELECTRON MICROSCOPY	3.61
6AHD	ELECTRON MICROSCOPY	3.8
9ZE3	ELECTRON MICROSCOPY	3.93
9ZED	ELECTRON MICROSCOPY	3.94
8QZS	ELECTRON MICROSCOPY	4.1
8R09	ELECTRON MICROSCOPY	4.3
8R0B	ELECTRON MICROSCOPY	4.4
6FF7	ELECTRON MICROSCOPY	4.5
7ABH	ELECTRON MICROSCOPY	4.5
8Y7E	ELECTRON MICROSCOPY	4.66
5Z58	ELECTRON MICROSCOPY	4.9
5Z56	ELECTRON MICROSCOPY	5.1
8QO9	ELECTRON MICROSCOPY	5.29
6AH0	ELECTRON MICROSCOPY	5.7
8R0A	ELECTRON MICROSCOPY	5.8
8R08	ELECTRON MICROSCOPY	6.1

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y3B4-F1	90.52	0.81

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (3): 29, 41, 29

Function

Pathways and Gene Ontology

Reactome pathways

8 pathways

ID	Pathway
R-HSA-72163	mRNA Splicing - Major Pathway
R-HSA-72165	mRNA Splicing - Minor Pathway
R-HSA-9770562	mRNA Polyadenylation
R-HSA-9918481	Dengue Virus-Host Interactions
R-HSA-9943411	CHD1 and CHD2 subfamily
R-HSA-72172	mRNA Splicing
R-HSA-72203	Processing of Capped Intron-Containing Pre-mRNA
R-HSA-8953854	Metabolism of RNA

MSigDB gene sets: 103 (showing top): GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, MODULE_493, GOBP_BLASTOCYST_FORMATION, GOBP_IN_UTERO_EMBRYONIC_DEVELOPMENT, REACTOME_MRNA_3_END_PROCESSING, REACTOME_PROCESSING_OF_CAPPED_INTRON_CONTAINING_PRE_MRNA, GOBP_PROTEIN_RNA_COMPLEX_ORGANIZATION, GOBP_BLASTOCYST_DEVELOPMENT, GOBP_RNA_SPLICING, REACTOME_MRNA_SPLICING, GOBP_EMBRYO_DEVELOPMENT, ACEVEDO_LIVER_CANCER_UP, GOBP_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS, GOBP_SPLICEOSOMAL_SNRNP_ASSEMBLY, REACTOME_METABOLISM_OF_RNA

GO Biological Process (5): mRNA splicing, via spliceosome (GO:0000398), blastocyst formation (GO:0001825), U2-type prespliceosome assembly (GO:1903241), mRNA processing (GO:0006397), RNA splicing (GO:0008380)

GO Molecular Function (4): RNA binding (GO:0003723), mRNA binding (GO:0003729), nucleic acid binding (GO:0003676), protein binding (GO:0005515)

GO Cellular Component (6): nucleus (GO:0005634), nucleoplasm (GO:0005654), spliceosomal complex (GO:0005681), U2-type spliceosomal complex (GO:0005684), U2 snRNP (GO:0005686), U12-type spliceosomal complex (GO:0005689)

Reactome top-level categories

Rollup of top-6 pathways:

Category	Pathways
mRNA Splicing	2
mRNA 3’-end processing	1
Dengue Virus Infection	1
CHD chromatin remodelers	1
Processing of Capped Intron-Containing Pre-mRNA	1
Metabolism of RNA	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA processing	2
binding	2
spliceosomal complex	2
RNA splicing, via transesterification reactions with bulged adenosine as nucleophile	1
mRNA processing	1
blastocyst development	1
anatomical structure formation involved in morphogenesis	1
spliceosomal complex assembly	1
mRNA metabolic process	1
nucleic acid binding	1
RNA binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cellular anatomical structure	1
nuclear protein-containing complex	1
ribonucleoprotein complex	1
spliceosomal snRNP complex	1

Protein interactions and networks

STRING

1560 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SF3B6	SF3B4	Q15427	993
SF3B6	SF3B2	Q13435	992
SF3B6	SF3B5	Q9BWJ5	992
SF3B6	SF3B3	Q15393	990
SF3B6	PHF5A	Q7RTV0	987
SF3B6	SF3B1	O75533	981
SF3B6	SF3A3	Q12874	764
SF3B6	SF3A1	Q15459	751
SF3B6	SF3A2	Q15428	676
SF3B6	U2AF2	P26368	640
SF3B6	SNRNP40	Q96DI7	543
SF3B6	SF1	Q15637	512
SF3B6	RBM41	Q96IZ5	490
SF3B6	DHX16	O60231	488
SF3B6	HTATSF1	O43719	462

IntAct

123 interactions, top by confidence:

A	B	Type	Score
SNRPE	GEMIN2	psi-mi:“MI:0914”(association)	0.770
CCDC97	SF3B1	psi-mi:“MI:0914”(association)	0.730
PHF5A	SF3B1	psi-mi:“MI:0914”(association)	0.730
SNRPD2	GEMIN2	psi-mi:“MI:0914”(association)	0.710
SNRPG	GEMIN2	psi-mi:“MI:0914”(association)	0.710
SF3B1	SF3B6	psi-mi:“MI:0915”(physical association)	0.660
IFT22	IFT56	psi-mi:“MI:0914”(association)	0.640
DNAJC8	SF3B1	psi-mi:“MI:0914”(association)	0.640
SF3B1	SAP18	psi-mi:“MI:0914”(association)	0.640
SNRPA1	U2SURP	psi-mi:“MI:0914”(association)	0.640
SF3B6	SF3B1	psi-mi:“MI:0407”(direct interaction)	0.620
PPP4R2	SF3B1	psi-mi:“MI:0914”(association)	0.570
PPP4R2	SF3B1	psi-mi:“MI:2364”(proximity)	0.570
SF3B6	SF3A2	psi-mi:“MI:0915”(physical association)	0.560
SNRPE	PRMT5	psi-mi:“MI:0914”(association)	0.530
SNRPE	SNRPGP15	psi-mi:“MI:0914”(association)	0.530
VCAM1	PSMD11	psi-mi:“MI:0914”(association)	0.530
SF3B6	BCAP31	psi-mi:“MI:0915”(physical association)	0.400
ZFAND4	SF3B6	psi-mi:“MI:0915”(physical association)	0.400
Sf3a1	U2SURP	psi-mi:“MI:0915”(physical association)	0.400
SDC1	ILVBL	psi-mi:“MI:0915”(physical association)	0.400
ERBB3	SF3B6	psi-mi:“MI:0915”(physical association)	0.370
XRCC1	PPIH	psi-mi:“MI:0914”(association)	0.350
SF1	U2SURP	psi-mi:“MI:0914”(association)	0.350
JUN		psi-mi:“MI:0914”(association)	0.350
Prkab1	MYL12B	psi-mi:“MI:0914”(association)	0.350

BioGRID (316): SF3B6 (Affinity Capture-MS), SF3B6 (Affinity Capture-MS), SF3B6 (Affinity Capture-MS), CCDC97 (Co-fractionation), SAFB (Co-fractionation), SF3B4 (Co-fractionation), SF3B5 (Co-fractionation), SF3B6 (Co-fractionation), SF3B6 (Co-fractionation), SF3B6 (Co-fractionation), SF3B6 (Affinity Capture-MS), SF3B6 (Affinity Capture-MS), SF3B6 (Affinity Capture-MS), SF3B6 (Affinity Capture-MS), SF3B6 (Affinity Capture-MS)

ESM2 similar proteins: A2SW84, A8Y1R8, B0W939, B1WC40, B3LYP1, B3P0D7, B4GLK8, B4IBA4, B4JUT1, B4KCD5, B4LZ88, B4M205, B4NB54, B4PL68, B4QV17, B5G279, B7P877, C0H859, C1BY64, C6Y4C0, D0VWM8, O59670, O94359, P25555, P36629, P38922, P52298, P52299, P59708, Q09295, Q09301, Q177H0, Q1HE01, Q293V6, Q3ZBJ1, Q5ZKR5, Q6DES0, Q7QCB6, Q8ITY4, Q8JGR6

Diamond homologs: A2Y0J7, A5A6M3, A6NDE4, A6NEQ0, B8AM21, O22922, O74968, O75494, P08579, P09012, P0C7P1, P0DJD3, P0DJD4, P38159, P40567, P43332, P45429, P59708, Q06AA4, Q0DKM4, Q10MR0, Q15415, Q2KIR1, Q39244, Q4R7F0, Q4V898, Q54J05, Q62189, Q6IRQ4, Q7LL14, Q7ZWA3, Q8H1S6, Q8ITY4, Q8WXF0, Q91VM5, Q9CQI7, Q9FMP4, Q9R0U0, Q9WV02, Q9Y3B4

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
SF3B6	“form complex”	SF3b	binding
SF3B6	“form complex”	“U2 snRNP complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 135 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Metabolism of non-coding RNA	6	37.0×	6e-07
mRNA Splicing	25	26.6×	3e-27
mRNA Splicing - Minor Pathway	11	23.9×	5e-11
mRNA Polyadenylation	28	23.9×	4e-29
Processing of Capped Intron-Containing Pre-mRNA	26	20.7×	2e-25
CHD1 and CHD2 subfamily	19	20.1×	4e-18
mRNA Splicing - Major Pathway	36	19.1×	2e-34
SARS-CoV-2 modulates host translation machinery	7	15.2×	2e-05

GO biological processes:

GO term	Partners	Fold	FDR
U2-type prespliceosome assembly	16	85.3×	6e-26
spliceosomal complex assembly	8	41.1×	2e-09
spliceosomal snRNP assembly	8	39.7×	2e-09
RNA splicing, via transesterification reactions	6	32.0×	3e-06
mRNA splicing, via spliceosome	30	23.5×	3e-30
RNA splicing	18	13.6×	3e-13
mRNA processing	16	10.8×	4e-10

Disease & clinical

Clinical variants and AI predictions

ClinVar

10 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	5
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

322 predictions. Top by Δscore:

Variant	Effect	Δscore
2:24067849:TGC:T	acceptor_gain	1.0000
2:24068455:TCCCC:T	acceptor_gain	1.0000
2:24068456:CCCC:C	acceptor_gain	1.0000
2:24068456:CCCCC:C	acceptor_gain	1.0000
2:24068457:CCC:C	acceptor_gain	1.0000
2:24068457:CCCC:C	acceptor_gain	1.0000
2:24068458:CC:C	acceptor_gain	1.0000
2:24068458:CCC:C	acceptor_gain	1.0000
2:24068459:CC:C	acceptor_gain	1.0000
2:24068460:C:CC	acceptor_gain	1.0000
2:24068461:T:A	acceptor_loss	1.0000
2:24074074:A:AC	donor_gain	1.0000
2:24074075:C:CC	donor_gain	1.0000
2:24074075:CA:C	donor_gain	1.0000
2:24074075:CACT:C	donor_gain	1.0000
2:24076192:ATACT:A	donor_loss	1.0000
2:24076194:ACTC:A	donor_loss	1.0000
2:24076197:CACGT:C	donor_loss	1.0000
2:24076198:A:AC	donor_gain	1.0000
2:24076198:ACGTT:A	donor_gain	1.0000
2:24076199:C:CC	donor_gain	1.0000
2:24076199:CG:C	donor_gain	1.0000
2:24076199:CGT:C	donor_gain	1.0000
2:24076199:CGTT:C	donor_gain	1.0000
2:24076199:CGTTC:C	donor_gain	1.0000
2:24067847:AATGC:A	acceptor_gain	0.9900
2:24067848:ATGC:A	acceptor_gain	0.9900
2:24067850:GC:G	acceptor_gain	0.9900
2:24067851:CC:C	acceptor_gain	0.9900
2:24067851:CCTGG:C	acceptor_loss	0.9900

AlphaMissense

824 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:24068354:T:A	R85S	1.000
2:24068354:T:G	R85S	1.000
2:24068373:C:T	G79E	1.000
2:24068379:A:G	L77P	1.000
2:24068400:G:T	A70D	1.000
2:24068424:A:T	V62E	1.000
2:24068430:G:T	A60D	1.000
2:24068431:C:G	A60P	1.000
2:24068436:C:A	G58V	1.000
2:24068436:C:T	G58E	1.000
2:24068437:C:G	G58R	1.000
2:24068437:C:T	G58R	1.000
2:24068457:C:T	G51E	1.000
2:24074097:C:A	G43V	1.000
2:24074097:C:T	G43E	1.000
2:24074157:A:T	I23K	1.000
2:24074163:A:C	L21W	1.000
2:24068349:A:T	L87H	0.999
2:24068355:C:A	R85I	0.999
2:24068355:C:G	R85T	0.999
2:24068356:T:C	R85G	0.999
2:24068373:C:A	G79V	0.999
2:24068374:C:G	G79R	0.999
2:24068374:C:T	G79R	0.999
2:24068391:G:T	A73E	0.999
2:24068392:C:G	A73P	0.999
2:24068401:C:G	A70P	0.999
2:24068421:A:T	V63D	0.999
2:24068457:C:A	G51V	0.999
2:24068458:C:A	G51W	0.999

dbSNP variants (sampled 300 via entrez): RS1000316940 (2:24073376 A>C), RS1000389653 (2:24067596 A>G), RS1000656844 (2:24069393 A>C), RS1002113394 (2:24067948 A>G), RS1002422000 (2:24067440 G>A), RS1002632883 (2:24072183 C>T), RS1003228698 (2:24070874 A>G), RS1003332155 (2:24078005 G>A), RS1003670824 (2:24070582 G>T), RS1004089313 (2:24067406 A>T), RS1004569725 (2:24077740 C>G), RS1006311519 (2:24072645 C>T), RS1006404605 (2:24076367 G>A,T), RS1006847574 (2:24076110 A>G), RS1007074705 (2:24073246 G>A)

Disease associations

OMIM: gene MIM:607835 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6066176 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

33 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression	3
TAK-243	increases sumoylation	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases expression	1
sodium arsenate	decreases expression	1
arsenite	increases reaction, affects binding	1
sodium arsenite	decreases expression	1
zinc chromate	increases abundance, increases expression	1
chromium hexavalent ion	increases abundance, increases expression	1
perfluorooctane sulfonic acid	decreases expression	1
CGP 52608	affects binding, increases reaction	1
chloropicrin	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, affects cotreatment	1
nutlin 3	affects cotreatment, increases secretion	1
dorsomorphin	affects cotreatment, increases expression	1
jinfukang	decreases expression	1
Sunitinib	decreases expression	1
Benzo(a)pyrene	affects methylation	1
Dactinomycin	affects cotreatment, increases secretion	1
Dimethyl Sulfoxide	increases expression	1
Doxorubicin	increases expression	1
Enzyme Inhibitors	increases O-linked glycosylation, decreases activity	1
Ethyl Methanesulfonate	increases expression	1
Formaldehyde	increases expression	1
Hydralazine	affects cotreatment, increases expression	1
Ivermectin	decreases expression	1
Lipopolysaccharides	affects expression, affects response to substance	1
Methyl Methanesulfonate	increases expression	1
Nicotine	increases expression	1

ChEMBL screening assays

6 unique, capped per target: 6 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5697666	Binding	Inhibition of SF3B14 (unknown origin) assessed as fold change at 10 uM incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis	Inhibition of BET recruitment to chromatin as an effective treatment for MLL-fusion leukaemia. — Nature

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.